A Longitudinal, Observational Study of Primary Ciliary Dyskinesia in Adults

NCT ID: NCT05685186

Last Updated: 2025-04-29

Basic Information

• Recruitment Status: ACTIVE_NOT_RECRUITING
• Total Enrollment: 50 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2023-03-08
• Study Completion Date: 2025-06-30

Brief Summary

The goal of this observational study is to characterize clinical measures and biomarkers of airway disease in adults with primary ciliary dyskinesia (PCD) and in a group of healthy volunteers (HV) to establish normative values. Lung function, mucociliary clearance, radiological findings, and clinical findings will be assessed. Furthermore, quality of life will be assessed using QOL-PCD, a disease specific questionnaire.

Detailed Description

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disease characterized by progressive upper and lower respiratory tract infections and inflammation caused by impaired mucociliary clearance (MCC). While longitudinal studies of children and adolescents with PCD have informed the early natural history of lung disease, there remains a knowledge gap in disease characteristics and progression in adults. There are no prospective published data evaluating the natural history of airway morbidity and mortality in adults, and little is known about the optimal clinical measures and biomarkers to evaluate disease progression. Cohort studies are needed to understand clinical measures and biomarkers across the lifespan of people with PCD, distinguish disease subtypes, and define endpoint variability. Natural history studies are critical for designing future clinical trials. New therapies have lagged in part due to lack of clear clinical biomarkers for adults.

The overarching goal is to characterize clinical measures and biomarkers of airway disease in adults with PCD. In addition, a subset of these clinical measures and biomarkers will be collected in a group of healthy volunteers (HV) to establish normative values.

Conditions

Primary Ciliary Dyskinesia

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

PCD Cohort

The PCD cohort will include individuals who have a genetically confirmed diagnosis of PCD with 2 identified pathogenetic variants within 1 of 4 genetic/ultrastructural variants:

• DNAI1 ODA defect
• Other ODA defect
• IDA-MTD defect, CCDC39 or CCDC40
• Radial Spoke defect

Spirometry

Intervention Type: DIAGNOSTIC_TEST

To assess lung function

Multiple Breath Washout (MBW)

Intervention Type: DIAGNOSTIC_TEST

To measure Lung Clearance Index (LCI)

Mucociliary Clearance (MCC)

Intervention Type: DIAGNOSTIC_TEST

To measure lung clearance after the inhalation of radiolabeled particles

CT of the chest

Intervention Type: DIAGNOSTIC_TEST

Low radiation to assess structural lung disease

MRI of the chest

Intervention Type: DIAGNOSTIC_TEST

To assess lung function and structural lung disease

Healthy Volunteer Cohort

The healthy volunteer cohort will include health individuals.

Spirometry

Intervention Type: DIAGNOSTIC_TEST

To assess lung function

Mucociliary Clearance (MCC)

Intervention Type: DIAGNOSTIC_TEST

To measure lung clearance after the inhalation of radiolabeled particles

MRI of the chest

Intervention Type: DIAGNOSTIC_TEST

To assess lung function and structural lung disease

Interventions

Spirometry

To assess lung function

Intervention Type: DIAGNOSTIC_TEST

Multiple Breath Washout (MBW)

To measure Lung Clearance Index (LCI)

Intervention Type: DIAGNOSTIC_TEST

Mucociliary Clearance (MCC)

To measure lung clearance after the inhalation of radiolabeled particles

Intervention Type: DIAGNOSTIC_TEST

CT of the chest

Low radiation to assess structural lung disease

Intervention Type: DIAGNOSTIC_TEST

MRI of the chest

To assess lung function and structural lung disease

Intervention Type: DIAGNOSTIC_TEST

Eligibility Criteria

Inclusion Criteria

• PCD diagnosis with confirmation of 2 identified pathogenic genetic variants within 1 of the following ultrastructure variants:
• DNAI1 ODA defect
• Other ODA defect
• IDA - MTD defect
• RS defect
• Informed consent

Exclusion Criteria

• Are a current smoker (e-cigarette, tobacco, or marijuana)
• Are a former smoker who discontinued smoking <1 year prior to enrollment or has a cumulative 1+ pack-year smoking history
• Have a recent stable forced expiratory volume in one second (FEV1) <35% predicted
• Have contraindications for MRI studies (implanted devices/materials; inability to tolerate; claustrophobia or severe anxiety that would preclude MRI/imaging)
• Have had a significant clinical radiation exposure (as determined by the investigator) within the past 6 months. Potential participants who have had a chest CT within the past 6 months may be eligible to be enrolled and their clinical CT will be utilized as the baseline for this study
• Are pregnant or breastfeeding
• Have any comorbidities likely to impact lung function (e.g., complex congenital heart disease, severe scoliosis, diseases involving immune dysregulation, lung transplantation, lung lobectomy, end-stage renal disease, or poor overall health status).

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 60 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

University of North Carolina, Chapel Hill

OTHER

Sponsor Role: collaborator

ReCode Therapeutics

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Priya Ryali

Role: STUDY_DIRECTOR

ReCode Therapeutics

Stephanie Davis

Role: PRINCIPAL_INVESTIGATOR

UNC Chapel Hill

Locations

University of North Carolina at Chapel Hill

Chapel Hill, North Carolina, United States

Countries

United States

Other Identifiers

RCTAX001

Identifier Type: -

Identifier Source: org_study_id